Unique maternal deletion of 15q in a patient with some symptoms of Prader-Willi syndrome.
Pediatr Int
; 47(5): 541-5, 2005 Oct.
Article
em En
| MEDLINE
| ID: mdl-16190961
ABSTRACT
BACKGROUND:
Human chromosome 15q11-q13 is a critical region for Prader-Willi syndrome (PWS) and Angelman syndrome (AS) and most of the genes are under the condition of imprinting mechanism. PWS results from the loss of expression of paternally expressed genes and AS of maternally expressed genes. In this study molecular studies about a patient with congenital anomalies and mental retardation are analyzed.METHODS:
Highly polymorphic microsatellite markers were analyzed by PCR. These markers exist within 15q11-q13 and distal to 15q13.RESULTS:
Only the maternal D15S986 locus within 15q11-q13 was deleted and other markers were biallelic.CONCLUSIONS:
The result of maternal small region deletion in this patient is different from the typical PWS with paternal chromosome deletion and it suggests that nearby the deleted region there exists a gene (genes) which is not imprinted but needs biallelic expression.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Prader-Willi
/
Cromossomos Humanos Par 15
/
Repetições de Microssatélites
/
Perda de Heterozigosidade
Tipo de estudo:
Diagnostic_studies
Limite:
Adolescent
/
Humans
/
Male
Idioma:
En
Revista:
Pediatr Int
Assunto da revista:
PEDIATRIA
Ano de publicação:
2005
Tipo de documento:
Article
País de afiliação:
Japão